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Definition
By Mayo Clinic staffNoonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in various ways: unusual facial characteristics, short stature, heart defects, other physical problems and possibly lower intelligence.
Noonan syndrome is caused by a genetic mutation and is acquired when a fetus inherits a copy of an affected gene from a parent (dominant inheritance). It can also occur as a spontaneous mutation, meaning there's no family history involved.
There's no specific treatment for Noonan syndrome. Management focuses on controlling the disease's symptoms and complications. Growth hormone may be used to treat short stature in some people with Noonan syndrome.
- Romano AA, et al. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:745.
- Van der Burgt I. Noonan Syndrome. Orphanet Journal of Rare Diseases. 2007;2:1.
- Allanson JE. Noonan syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=noonan. Accessed Nov. 16, 2010.
- Allanson JE. Noonan syndrome. American Journal of Medical Genetics. 2007;145C: 274.
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